HelmholtzZentrum munich

Connecting genetic risk to disease endpoints through the human blood plasma proteome


Proteome annotation
Locus annotations

Locus 192

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
HAI-1 trans Discovery rs4494114 1:39,339,682 T/C 0.44 995 -0.399 0.042 1.9×10-20 -1.120 7.1×10-20 1.2×10-17
HAI-1 trans Replication rs12127091 1:39,339,449 G/A 0.39 337 -0.327 0.058 3×10-8 -1.130 7.2×10-8 1.1×10-8


Regional association plots

Kunitz-type protease inhibitor 1 (HAI-1)


Boxplots and histograms for top associations

Kunitz-type protease inhibitor 1 (HAI-1)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Kunitz-type protease inhibitor 1 (HAI-1)

Target (abbrv.) HAI-1
Target (full name) Kunitz-type protease inhibitor 1
Somalogic ID (Sequence ID) SL004645 (2828-82_2)
Entrez Gene Symbol SPINT1
UniProt ID O43278
UniProt Comment
  • Inhibitor of HGF activator. Also acts as an inhibitor of matriptase (ST14).

All locus annotations are based on the sentinel SNP (rs4494114) and 58 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
Potentially regulated genes
  • RRAGC Ras-related GTP binding C
  • MACF1 microtubule-actin crosslinking factor 1
eQTL genes


Results from other genome-wide association studies

Trait P Study Source
Serum ratio of (2-oleoylglycerophosphocholine*)/(dihomo-linoleate (20:2n6)) 2.9×10-5 21886157 (PMID) GRASP2 metabQTL
Fasting insulin 6.1×10-5 17463246 (PMID) GRASP2 nonQTL
Serum ratio of (glycodeoxycholate)/(stearoylcarnitine) 1.2×10-4 21886157 (PMID) GRASP2 metabQTL
HOMA-IR 1.4×10-4 17463246 (PMID) GRASP2 nonQTL

Possible link between cis-variants and protein levels of SPINT1.

This locus harbours a replicated trans-pQTL to Kunitz-type protease inhibitor 1 (SPINT1).

The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.